Allele Registry

Canonical Allele Identifier: PA2830146872

Gene: COL6A3 HGNC NCBI

ClinVar Allele:

490370

ClinVar RCV:

RCV000595402

RCV001367018

ClinVar Variation:

498946

HGVS (amino-acid)	Matching Registered Transcripts
NP_476507.3:p.Asn260Ile	CA2189364 NM_057166.5:c.779A>T